Journal
JOURNAL OF MEDICAL GENETICS
Volume 47, Issue 10, Pages 721-722Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2010.078964
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Funding
- French National Cancer Institute (INCa)
- INSERM
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Heterozygous APC germline alteration is responsible for familial adenomatous polyposis, a colon cancer predisposition with almost complete penetrance. Point mutations generally lead to truncated proteins or no protein at all. They mainly involve exon 3 to codon 1700 (exon 15). The work presented here delineates precisely the APC mutation spectrum from 15 years of systematic molecular screening which identified 863 independent alterations in the French population.
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